Michael Waterman
Faculty Member
Last active: 2/12/2015

Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Yanase T, Waterman MR, Zachmann M, Winter JS, Simpson ER, Kagimoto M
Biochim Biophys Acta. 1992 1139 (4): 275-9

PMID: 1515452 · DOI:10.1016/0925-4439(92)90100-2

MeSH Terms (14)

Adolescent Adrenal Hyperplasia, Congenital Aldehyde-Lyases Amino Acid Sequence Base Sequence Cell Line Cytochrome P-450 Enzyme System Disorders of Sex Development Heterozygote Humans Male Molecular Sequence Data Mutation Transfection

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